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Glycogenosis type IB: possible membrane transport defect.

W A Skaug, L L Warford, J M Figueroa

    Southern Medical Journal
    |June 1, 1981
    PubMed
    Summary

    A 20-month-old child presented with glycogen storage disease type IB. Further studies suggest a specific glucose-6-phosphate transport defect, not a deficiency in the enzyme itself.

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    Area of Science:

    • Biochemistry
    • Pediatric Endocrinology
    • Metabolic Disorders

    Background:

    • Glycogen storage diseases (GSDs) are inherited metabolic disorders affecting glycogen synthesis or degradation.
    • Type IB glycogen storage disease is characterized by a deficiency in the glucose-6-phosphate transporter (G6PT).
    • This leads to impaired glucose release from the liver and hypoglycemia.

    Observation:

    • A 20-month-old child exhibited clinical and biochemical features consistent with glycogen storage disease type IB.
    • Functional testing mirrored glucose-6-phosphatase deficiency.
    • In vitro studies revealed normal hepatic glucose-6-phosphatase activity in the patient's liver tissue.

    Findings:

    • Disruption of liver cell membranes with deoxycholic acid increased glucose-6-phosphatase activity.

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  • This suggests an enzyme "latency" phenomenon rather than a complete deficiency.
  • The findings point towards a defect in glucose-6-phosphate transport (G6PT deficiency).

    • Implications:

    • This case supports glycogen storage disease type IB as a distinct entity.
    • It highlights the importance of differentiating transport defects from enzyme deficiencies in GSDs.
    • Further research into glucose-6-phosphate transport mechanisms is warranted.